Neoplasm, and Large fontanelles

Diseases related with Neoplasm and Large fontanelles

In the following list you will find some of the most common rare diseases related to Neoplasm and Large fontanelles that can help you solving undiagnosed cases.


Top matches:

Low match PARIETAL FORAMINA WITH CLAVICULAR HYPOPLASIA


Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.

PARIETAL FORAMINA WITH CLAVICULAR HYPOPLASIA Is also known as parietal foramina with cleidocranial dysplasia|cleidocranial dysplasia with parietal foramina

Related symptoms:

  • Macrocephaly
  • Microtia
  • Broad forehead
  • Short clavicles
  • Abnormality of the clavicle


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PARIETAL FORAMINA WITH CLAVICULAR HYPOPLASIA

Low match ATHYREOSIS


Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about ATHYREOSIS

Low match FAMILIAL THYROID DYSHORMONOGENESIS


Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.

FAMILIAL THYROID DYSHORMONOGENESIS Is also known as iodine accumulation, transport, or trapping defect|thyroid hormonogenesis, genetic defect in, 1|thyroid dyshormonogenesis|hypothyroidism, congenital, due to dyshormonogenesis, 1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL THYROID DYSHORMONOGENESIS

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Other less relevant matches:

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV


Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Low match FIBROCHONDROGENESIS 2; FBCG2


Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Myopia
  • Macrocephaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about FIBROCHONDROGENESIS 2; FBCG2

Low match PERIPHERAL RESISTANCE TO THYROID HORMONES


Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.

Related symptoms:

  • Muscular hypotonia
  • Feeding difficulties
  • Constipation
  • Hypothyroidism
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about PERIPHERAL RESISTANCE TO THYROID HORMONES

Low match HYPOTHYROIDISM DUE TO TSH RECEPTOR MUTATIONS


Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

Related symptoms:

  • Muscular hypotonia
  • Feeding difficulties
  • Constipation
  • Hypothyroidism
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about HYPOTHYROIDISM DUE TO TSH RECEPTOR MUTATIONS

Low match THYROID HYPOPLASIA


Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about THYROID HYPOPLASIA

Low match OSTEOGENESIS IMPERFECTA, TYPE IX; OI9


Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).

OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 Is also known as oi, type ix

Related symptoms:

  • Scoliosis
  • Growth delay
  • Macrocephaly
  • Kyphosis
  • Pectus excavatum


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE IX; OI9

Low match ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY


Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Depressed nasal bridge
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

Top 5 symptoms//phenotypes associated to Neoplasm and Large fontanelles

Symptoms // Phenotype % cases
Macroglossia Common - Between 50% and 80% cases
Abdominal distention Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases
Constipation Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Neoplasm and Large fontanelles. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Coarse facial features Jaundice Abnormality of the face Fatigue Feeding difficulties Growth delay Short stature Umbilical hernia Wide anterior fontanel Global developmental delay Intellectual disability, severe Sleep disturbance Macrocephaly

Rare Symptoms - Less than 30% cases


Thyroid agenesis Hearing impairment Congenital hypothyroidism Hoarse cry Dry skin Hypersomnia Narcolepsy Pseudohypoparathyroidism Kyphoscoliosis Osteoporosis Pectus excavatum Kyphosis Scoliosis Thyroid hypoplasia Hypothalamic hypothyroidism Joint hypermobility Cupped ribs Hypoplastic pubic bone Hypoplastic ischia Metaphyseal cupping Hypoplastic ilia Bell-shaped thorax Protuberant abdomen Pectus carinatum Recurrent fractures Omphalocele Generalized hypotonia Growth hormone deficiency Intellectual disability, progressive Abnormality of metabolism/homeostasis Hypopituitarism Severe postnatal growth retardation Depressed nasal bridge Metaphyseal widening Bowing of limbs due to multiple fractures Blue sclerae Pituitary hypothyroidism Multiple prenatal fractures Dentinogenesis imperfecta Femoral bowing Increased susceptibility to fractures Disproportionate short-limb short stature Wormian bones Rhizomelia Thoracic hypoplasia Congenital hypoplastic anemia Short ribs Hepatomegaly Anemia Hypertelorism Ectopic thyroid Goiter Oligodontia Lethargy Intellectual disability Edema Muscle weakness Symmetrical, oval parietal bone defects Dermoid cyst Widely patent fontanelles and sutures Parietal foramina Abnormality of the clavicle Short clavicles Broad forehead Cardiomyopathy Splenomegaly High myopia Erythroid hyperplasia Platyspondyly Skeletal dysplasia Midface retrusion Malar flattening Short nose Anteverted nares Myopia Micrognathia Microtia Hypospadias Normochromic anemia Fetal distress Anemia of inadequate production Reticulocytosis Hyperbilirubinemia Hydrops fetalis Hypertrophic cardiomyopathy Micropenis Craniopharyngioma



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